Personalized medicine

Personalized medicine is a therapeutic approach involving the use of an individual’s genetic and epigenetic information to tailor drug therapy or preventive care.

Latest Research and Reviews

  • Research |

    Analysis of signatures of hypoxia in more than 8,000 tumors from 19 cancer types identifies hypoxia-driven mutation signatures and dysregulation of microRNAs.

    • Vinayak Bhandari
    • , Christianne Hoey
    • , Lydia Y. Liu
    • , Emilie Lalonde
    • , Jessica Ray
    • , Julie Livingstone
    • , Robert Lesurf
    • , Yu-Jia Shiah
    • , Tina Vujcic
    • , Xiaoyong Huang
    • , Shadrielle M. G. Espiritu
    • , Lawrence E. Heisler
    • , Fouad Yousif
    • , Vincent Huang
    • , Takafumi N. Yamaguchi
    • , Cindy Q. Yao
    • , Veronica Y. Sabelnykova
    • , Michael Fraser
    • , Melvin L. K. Chua
    • , Theodorus van der Kwast
    • , Stanley K. Liu
    • , Paul C. Boutros
    •  & Robert G. Bristow
  • Research |

    Activating HER2 mutations are shown to confer resistance to ER-directed therapies in patients with ER+ metastatic breast cancer. Drug resistance caused by HER2 mutations was overcome by combining ER-directed therapy with a HER2 kinase inhibitor.

    • Utthara Nayar
    • , Ofir Cohen
    • , Christian Kapstad
    • , Michael S. Cuoco
    • , Adrienne G. Waks
    • , Seth A. Wander
    • , Corrie Painter
    • , Samuel Freeman
    • , Nicole S. Persky
    • , Lori Marini
    • , Karla Helvie
    • , Nelly Oliver
    • , Orit Rozenblatt-Rosen
    • , Cynthia X. Ma
    • , Aviv Regev
    • , Eric P. Winer
    • , Nancy U. Lin
    •  & Nikhil Wagle
  • Research |

    This study finds germline loss-of-function mutations in HAVCR2, which encodes the immune modulator TIM-3, in individuals with subcutaneous panniculitis-like T cell lymphomas and hemophagocytic lymphohistiocytosis, a life-threatening inflammatory condition.

    • Tenzin Gayden
    • , Fernando E. Sepulveda
    • , Dong-Anh Khuong-Quang
    • , Jonathan Pratt
    • , Elvis T. Valera
    • , Alexandrine Garrigue
    • , Susan Kelso
    • , Frank Sicheri
    • , Leonie G. Mikael
    • , Nancy Hamel
    • , Andrea Bajic
    • , Rola Dali
    • , Shriya Deshmukh
    • , Dzana Dervovic
    • , Daniel Schramek
    • , Frédéric Guerin
    • , Mikko Taipale
    • , Hamid Nikbakht
    • , Jacek Majewski
    • , Despina Moshous
    • , Janie Charlebois
    • , Sharon Abish
    • , Christine Bole-Feysot
    • , Patrick Nitschke
    • , Brigitte Bader-Meunier
    • , David Mitchell
    • , Catherine Thieblemont
    • , Maxime Battistella
    • , Simon Gravel
    • , Van-Hung Nguyen
    • , Rachel Conyers
    • , Jean-Sebastien Diana
    • , Chris McCormack
    • , H. Miles Prince
    • , Marianne Besnard
    • , Stephane Blanche
    • , Paul G. Ekert
    • , Sylvie Fraitag
    • , William D. Foulkes
    • , Alain Fischer
    • , Bénédicte Neven
    • , David Michonneau
    • , Geneviève de Saint Basile
    •  & Nada Jabado
    Nature Genetics 50, 1650-1657
  • Research | | open

    Proteoforms arise as protein isoforms or as protein haplotypes, which are the result of genetic variation. Here, the authors develop Haplosaurus, a database that computes protein haplotypes genome-wide from existing genotype data and analyse protein haplotype variability in the 1000 Genomes dataset.

    • William Spooner
    • , William McLaren
    • , Timothy Slidel
    • , Donna K. Finch
    • , Robin Butler
    • , Jamie Campbell
    • , Laura Eghobamien
    • , David Rider
    • , Christine Mione Kiefer
    • , Matthew J. Robinson
    • , Colin Hardman
    • , Fiona Cunningham
    • , Tristan Vaughan
    • , Paul Flicek
    •  & Catherine Chaillan Huntington

News and Comment